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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544154341" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1694", "end_pos": "1694", "site_lbl": "Gln1694", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40674728", "evidence": [ { "id": "rs5527551176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527551176" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1716", "end_pos": "1716", "site_lbl": "Lys1716", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40676358", "evidence": [ { "id": "rs578511842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578511842" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "173", "end_pos": "173", "site_lbl": "His173", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40632184", "evidence": [ { "id": "rs3388803436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388803436" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Glu174", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40632187", "evidence": [ { "id": "rs3388814156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814156" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1777", "end_pos": "1777", "site_lbl": "Gln1777", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40680348", "evidence": [ { "id": "rs586323683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586323683" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1778", "end_pos": "1778", "site_lbl": "Glu1778", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40680351", "evidence": [ { "id": "rs578503669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578503669" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1780", "end_pos": "1780", "site_lbl": "Ser1780", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40680357", "evidence": [ { "id": "rs387189327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387189327" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1798", "end_pos": "1798", "site_lbl": "Thr1798", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40680411", "evidence": [ { "id": "rs585793703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585793703" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1814", "end_pos": "1814", "site_lbl": "Arg1814", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683333", "evidence": [ { "id": "rs387322592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387322592" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1824", "end_pos": "1824", "site_lbl": "Gly1824", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683363", "evidence": [ { "id": "rs582607671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582607671" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1826", "end_pos": "1826", "site_lbl": "Phe1826", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683370", "evidence": [ { "id": "rs586072548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586072548" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1856", "end_pos": "1856", "site_lbl": "Glu1856", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683825", "evidence": [ { "id": "rs585953617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585953617" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1864", "end_pos": "1864", "site_lbl": "Thr1864", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683848", "evidence": [ { "id": "rs579690625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579690625" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1883", "end_pos": "1883", "site_lbl": "Gly1883", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683905", "evidence": [ { "id": "rs36989320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36989320" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1903", "end_pos": "1903", "site_lbl": "Pro1903", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683965", "evidence": [ { "id": "rs579866040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579866040" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Val191", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40632238", "evidence": [ { "id": "rs3388823563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823563" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1966", "end_pos": "1966", "site_lbl": "Arg1966", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40686030", "evidence": [ { "id": "rs36697720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36697720" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40632283", "evidence": [ { "id": "rs3388793001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388793001" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Leu21", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40619973", "evidence": [ { "id": "rs3388791016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388791016" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2204", "end_pos": "2204", "site_lbl": "Val2204", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40691963", "evidence": [ { "id": "rs36761099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36761099" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2218", "end_pos": "2218", "site_lbl": "Ile2218", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40692005", "evidence": [ { "id": "rs3544150092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544150092" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2240", "end_pos": "2240", "site_lbl": "His2240", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40692363", "evidence": [ { "id": "rs586347652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586347652" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2309", "end_pos": "2309", "site_lbl": "Thr2309", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40702422", "evidence": [ { "id": "rs233007583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233007583" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2430", "end_pos": "2430", "site_lbl": "Gln2430", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40705974", "evidence": [ { "id": "rs583051398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583051398" } ] }, { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40705972", "evidence": [ { "id": "rs579601677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579601677" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2480", "end_pos": "2480", "site_lbl": "Thr2480", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40706540", "evidence": [ { "id": "rs5527569160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527569160" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2497", "end_pos": "2497", "site_lbl": "Met2497", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40706593", "evidence": [ { "id": "rs220130454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220130454" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40706592", "evidence": [ { "id": "rs256162253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256162253" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Asn251", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40633446", "evidence": [ { "id": "rs243549483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243549483" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2567", "end_pos": "2567", "site_lbl": "Lys2567", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40712258", "evidence": [ { "id": "rs1132252188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132252188" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2575", "end_pos": "2575", "site_lbl": "His2575", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40712281", "evidence": [ { "id": "rs5527433179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527433179" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2590", "end_pos": "2590", "site_lbl": "Arg2590", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40712327", "evidence": [ { "id": "rs1133040997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133040997" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2656", "end_pos": "2656", "site_lbl": "Asn2656", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40717036", "evidence": [ { "id": "rs228847488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228847488" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2671", "end_pos": "2671", "site_lbl": "Arg2671", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40717081", "evidence": [ { "id": "rs5527581409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527581409" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Ile26", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40619989", "evidence": [ { "id": "rs3388832169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388832169" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Val276", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40634401", "evidence": [ { "id": "rs3388824613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824613" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2837", "end_pos": "2837", "site_lbl": "Pro2837", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40722172", "evidence": [ { "id": "rs3396643107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396643107" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2838", "end_pos": "2838", "site_lbl": "Ser2838", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40722175", "evidence": [ { "id": "rs3396271485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396271485" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2840", "end_pos": "2840", "site_lbl": "Thr2840", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40722180", "evidence": [ { "id": "rs3544150026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544150026" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2841", "end_pos": "2841", "site_lbl": "Pro2841", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40722184", "evidence": [ { "id": "rs3396662406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396662406" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3033", "end_pos": "3033", "site_lbl": "Lys3033", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40726074", "evidence": [ { "id": "rs252225961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252225961" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3066", "end_pos": "3066", "site_lbl": "Asn3066", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40727159", "evidence": [ { "id": "rs3544163070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544163070" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3071", "end_pos": "3071", "site_lbl": "Asn3071", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40727175", "evidence": [ { "id": "rs3544215461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544215461" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3089", "end_pos": "3089", "site_lbl": "Glu3089", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40727474", "evidence": [ { "id": "rs582726506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582726506" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3096", "end_pos": "3096", "site_lbl": "Arg3096", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40727496", "evidence": [ { "id": "rs3544250648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544250648" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3134", "end_pos": "3134", "site_lbl": "His3134", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40727906", "evidence": [ { "id": "rs583894973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583894973" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3194", "end_pos": "3194", "site_lbl": "Ala3194", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40732408", "evidence": [ { "id": "rs3396663964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396663964" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3212", "end_pos": "3212", "site_lbl": "Tyr3212", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40732461", "evidence": [ { "id": "rs259098781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259098781" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Phe325", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40635170", "evidence": [ { "id": "rs3388824624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824624" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3324", "end_pos": "3324", "site_lbl": "Gln3324", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40734776", "evidence": [ { "id": "rs579923024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579923024" } ] }, { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40734774", "evidence": [ { "id": "rs585459087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585459087" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Val334", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40635195", "evidence": [ { "id": "rs3388824171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824171" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3409", "end_pos": "3409", "site_lbl": "Glu3409", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40736723", "evidence": [ { "id": "rs36545925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36545925" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3431", "end_pos": "3431", "site_lbl": "Pro3431", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40736788", "evidence": [ { "id": "rs231509672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231509672" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Arg343", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40635874", "evidence": [ { "id": "rs221004220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221004220" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3482", "end_pos": "3482", "site_lbl": "Trp3482", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40740105", "evidence": [ { "id": "rs3395914747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395914747" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3484", "end_pos": "3484", "site_lbl": "Glu3484", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40740111", "evidence": [ { "id": "rs3396664019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396664019" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Leu34", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40620013", "evidence": [ { "id": "rs3388814170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814170" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3500", "end_pos": "3500", "site_lbl": "Arg3500", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40741138", "evidence": [ { "id": "rs5527534286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527534286" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3515", "end_pos": "3515", "site_lbl": "Trp3515", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40741184", "evidence": [ { "id": "rs3396690682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396690682" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3542", "end_pos": "3542", "site_lbl": "Glu3542", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742840", "evidence": [ { "id": "rs583046962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583046962" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742838", "evidence": [ { "id": "rs579599804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579599804" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3543", "end_pos": "3543", "site_lbl": "Lys3543", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742842", "evidence": [ { "id": "rs256712230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256712230" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3544", "end_pos": "3544", "site_lbl": "Phe3544", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742845", "evidence": [ { "id": "rs587122130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587122130" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3548", "end_pos": "3548", "site_lbl": "Leu3548", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742856", "evidence": [ { "id": "rs248679545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248679545" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3577", "end_pos": "3577", "site_lbl": "Asn3577", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742944", "evidence": [ { "id": "rs36486852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36486852" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3581", "end_pos": "3581", "site_lbl": "Glu3581", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742955", "evidence": [ { "id": "rs221602925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221602925" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3584", "end_pos": "3584", "site_lbl": "Phe3584", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742964", "evidence": [ { "id": "rs237758323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237758323" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3615", "end_pos": "3615", "site_lbl": "Ser3615", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40745210", "evidence": [ { "id": "rs239654873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239654873" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Ser459", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40638644", "evidence": [ { "id": "rs225510701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225510701" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ala45", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40621762", "evidence": [ { "id": "rs3388823541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823541" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Ile462", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40638653", "evidence": [ { "id": "rs3396512247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396512247" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Phe488", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40639599", "evidence": [ { "id": "rs223797834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223797834" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Pro51", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40621781", "evidence": [ { "id": "rs3388817883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817883" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Asn521", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40640495", "evidence": [ { "id": "rs3388824643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824643" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Val547", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40641787", "evidence": [ { "id": "rs258810565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258810565" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Ala567", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40641847", "evidence": [ { "id": "rs3388814149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814149" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Leu60", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40621808", "evidence": [ { "id": "rs3388810572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810572" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "615", "end_pos": "615", "site_lbl": "Pro615", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40643915_40643916insTCAAGCATGCCTGGGATGGACCACTGAAGGTC", "evidence": [ { "id": "rs3396672463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396672463" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "834", "end_pos": "834", "site_lbl": "Glu834", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q62520", "url": "https://www.uniprot.org/uniprotkb/Q62520" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "Q62520", "url": "https://www.uniprot.org/uniprotkb/Q62520" } ], "pmid": "" }, { "name": "paraxial mesoderm development", "id": "GO:0048339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048339", "evidence": [ { "database": "UniProtKB", "id": "Q62520", "url": "https://www.uniprot.org/uniprotkb/Q62520" } ], "pmid": "" }, { "name": "neural plate development", "id": "GO:0001840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001840", "evidence": [ { "database": "UniProtKB", "id": "Q62520", "url": "https://www.uniprot.org/uniprotkb/Q62520" } ], "pmid": "" }, { "name": "axial mesoderm development", "id": "GO:0048318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048318", "evidence": [ { "database": "UniProtKB", "id": "Q62520", "url": "https://www.uniprot.org/uniprotkb/Q62520" } ], "pmid": "" }, { "name": "central nervous system segmentation", "id": "GO:0035283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035283", "evidence": [ { "database": "UniProtKB", "id": "Q62520", "url": "https://www.uniprot.org/uniprotkb/Q62520" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62520-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Ser192", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62520", "url": "https://www.uniprot.org/uniprotkb/Q62520" }, { "database": "PubMed", "id": "18068128", "url": "https://glygen.org/publication/PubMed/18068128" }, { "database": "iPTMnet", "id": "Q62520", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62520" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Still phosphorylated.", "evidence": [ { "database": "UniProtKB", "id": "Q62520", "url": "https://www.uniprot.org/uniprotkb/Q62520" }, { "database": "PubMed", "id": "18068128", "url": "https://glygen.org/publication/PubMed/18068128" } ] } ] }, { "uniprot_canonical_ac": "Q62520-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62520", "url": "https://www.uniprot.org/uniprotkb/Q62520" }, { "database": "PubMed", "id": "18068128", "url": "https://glygen.org/publication/PubMed/18068128" }, { "database": "iPTMnet", "id": "Q62520", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62520" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Absence of phosphorylation. 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Inhibits strongly transcriptional activation.", "evidence": [ { "database": "UniProtKB", "id": "Q62520", "url": "https://www.uniprot.org/uniprotkb/Q62520" }, { "database": "PubMed", "id": "18068128", "url": "https://glygen.org/publication/PubMed/18068128" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "P46684-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P46684", "url": "https://www.uniprot.org/uniprotkb/P46684" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 447, "chemical_mass": 48331.0, "gene_names": "Zic1;ZIC;ZNF201;Zic1;Zic", "protein_name": "Zinc finger protein ZIC 1", "disease": [ { "disease_id": "DOID:0050777", "name": "Joubert syndrome", "description": "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, 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"url": "https://disease-ontology.org/term/DOID:10914", "evidence": [ { "id": "10914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10914" } ], "weight": 0.0 }, { "disease_id": "DOID:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).", "url": "https://disease-ontology.org/term/DOID:10933", "evidence": [ { "id": "10933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10933" } ], "weight": 0.0 }, { "disease_id": "DOID:11206", "name": "opioid abuse", "description": "A substance abuse that involves the recurring use of opioid drugs despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:11206", "evidence": [ { "id": "11206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11206" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11870", "name": "Pick's disease", "description": "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.", "url": "https://disease-ontology.org/term/DOID:11870", "evidence": [ { "id": "11870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11870" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9973", "name": "substance dependence", "description": "A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9973", "evidence": [ { "id": "9973", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9973" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to hypobaric hypoxia", "id": "GO:1990910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990910", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to purine-containing compound", "id": "GO:0014074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014074", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "positive regulation of lipid biosynthetic process", "id": "GO:0046889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046889", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to morphine", "id": "GO:0043278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043278", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "negative regulation of transcription by competitive promoter binding", "id": "GO:0010944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010944", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to L-glutamate", "id": "GO:1902065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902065", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "regulation of testosterone biosynthetic process", "id": "GO:2000224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000224", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "secretory granule organization", "id": "GO:0033363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033363", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "cellular response to platelet-derived growth factor stimulus", "id": "GO:0036120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036120", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "cellular response to zinc ion", "id": "GO:0071294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071294", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "lung epithelium development", "id": "GO:0060428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060428", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "cellular response to hepatocyte growth factor stimulus", "id": "GO:0035729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035729", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "lung saccule development", "id": "GO:0060430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060430", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to glucagon", "id": "GO:0033762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033762", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to dehydroepiandrosterone", "id": "GO:1903494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903494", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { 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"UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "GTPase activating protein binding", "id": "GO:0032794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032794", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" } ], "cellular_component": [ { "name": "zymogen granule", "id": "GO:0042588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042588", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "positive regulation of NAD(P)H oxidase activity", "id": "GO:0033864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033864", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "GTP metabolic process", "id": "GO:0046039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "Q9DC51", "url": "https://www.uniprot.org/uniprotkb/Q9DC51" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DC51-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Ser44", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 44, "start_aa": "Ser", "end_pos": 44, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser44", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9DC51", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9DC51" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "P40936-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P40936", "url": 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "interleukin-23 receptor binding", "id": "GO:0045519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045519", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of NK T cell proliferation", "id": 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"inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": 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differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { 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"https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "negative regulation of acute inflammatory response", "id": "GO:0002674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002674", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", 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"" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035357", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", 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button organization", "id": "GO:0072553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072553", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "synaptic vesicle targeting", "id": "GO:0016080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016080", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "cytoskeletal matrix organization at active zone", "id": "GO:0048789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048789", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "synaptic vesicle clustering", "id": "GO:0097091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097091", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "neurexin 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"calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": 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"uniprot_canonical_ac": "Q6P549-1", "start_pos": "690", "end_pos": "690", "site_lbl": "Cys690", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Induces little effect.", "evidence": [ { "database": "UniProtKB", "id": "Q6P549", "url": "https://www.uniprot.org/uniprotkb/Q6P549" }, { "database": "PubMed", "id": "10958682", "url": "https://glygen.org/publication/PubMed/10958682" } ] } ] }, { "uniprot_canonical_ac": "Q6P549-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Arg692", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Still partially active.", "evidence": [ { "database": "UniProtKB", "id": "Q6P549", "url": "https://www.uniprot.org/uniprotkb/Q6P549" }, { "database": "PubMed", "id": "10958682", "url": "https://glygen.org/publication/PubMed/10958682" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "P63087-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ 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"" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P63087", "url": "https://www.uniprot.org/uniprotkb/P63087" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "P63087", "url": "https://www.uniprot.org/uniprotkb/P63087" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "P63087", "url": "https://www.uniprot.org/uniprotkb/P63087" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "P63087", "url": "https://www.uniprot.org/uniprotkb/P63087" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q924W5", "url": "https://www.uniprot.org/uniprotkb/Q924W5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1097, "chemical_mass": 127198.0, "gene_names": "Smc6;2810489L22Rik;3830418C19Rik;Kiaa4103;SMC-6;Smc6l1;Smc6;mKIAA4103", "protein_name": "Structural maintenance of chromosomes protein 6", "disease": [], "biological_process": [ { "name": "positive regulation of chromosome segregation", "id": "GO:0051984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051984", "evidence": [ { "database": "UniProtKB", "id": "Q924W5", "url": "https://www.uniprot.org/uniprotkb/Q924W5" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q924W5", "url": "https://www.uniprot.org/uniprotkb/Q924W5" } ], "pmid": "" }, { "name": "double-strand break repair via homologous 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"https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010971", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "microglia development", "id": "GO:0014005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014005", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "axon midline choice point recognition", "id": "GO:0016199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016199", "evidence": [ { "database": "UniProtKB", 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"https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "antifungal humoral response", "id": "GO:0019732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019732", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of toll-like receptor signaling pathway", "id": "GO:0034121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034121", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor signaling pathway", "id": "GO:0035235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035235", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", 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"https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum calcium ion homeostasis", "id": "GO:0051563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051563", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein trimerization", "id": "GO:0070206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070206", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to norepinephrine stimulus", "id": "GO:0071874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071874", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ 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"" }, { "name": "positive regulation of G protein-coupled receptor internalization", "id": "GO:1904022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904022", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of protein import", "id": "GO:1904591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904591", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of response to endoplasmic reticulum stress", "id": "GO:1905898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905898", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of amyloid fibril formation", "id": "GO:1905906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905906", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of amyloid fibril formation", "id": "GO:1905908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905908", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of response to calcium ion", "id": "GO:1905945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905945", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of T cell migration", "id": "GO:2000406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000406", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of amyloid-beta clearance", "id": "GO:1900221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900221", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of dendritic spine maintenance", "id": "GO:1902951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902951", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "low-density lipoprotein particle mediated signaling", "id": "GO:0055096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055096", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of neurotransmitter uptake", "id": "GO:0051580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051580", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:1900454", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of spontaneous synaptic transmission", "id": "GO:0150003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150003", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of amyloid precursor protein catabolic process", "id": "GO:1902993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902993", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of presynapse assembly", "id": "GO:1905607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905607", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of blood circulation", "id": "GO:1903523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903523", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of endothelin production", "id": "GO:1904472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904472", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "hippocampal neuron apoptotic process", "id": "GO:0110088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110088", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of Toll signaling pathway", "id": "GO:0045752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045752", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cytosolic mRNA polyadenylation", "id": "GO:0180011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180011", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903381", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of gene expression, epigenetic", "id": "GO:0141137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141137", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of cAMP/PKA signal transduction", "id": "GO:0141163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141163", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of protein metabolic process", "id": "GO:0051246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051246", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of macromolecule metabolic process", "id": "GO:0010604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010604", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "response to insulin-like growth factor stimulus", "id": "GO:1990418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990418", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" } ], "molecular_function": [ { "name": "RAGE receptor binding", "id": "GO:0050786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050786", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "insulin receptor binding", "id": "GO:0005158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "peptidase activator activity", "id": "GO:0016504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016504", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "signaling receptor activator activity", "id": "GO:0030546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030546", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "acetylcholine receptor binding", "id": "GO:0033130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033130", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan binding", "id": "GO:0043395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043395", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "ephrin receptor binding", "id": "GO:0046875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046875", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": 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"P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "transition metal ion binding", "id": "GO:0046914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046914", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "molecular function activator activity", "id": "GO:0140677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140677", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" } ], "cellular_component": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "neuronal dense core vesicle", "id": "GO:0098992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098992", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": 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"" } ], "molecular_function": [ { "name": "delayed rectifier potassium channel activity", "id": "GO:0005251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005251", "evidence": [ { "database": "UniProtKB", "id": "Q60603", "url": "https://www.uniprot.org/uniprotkb/Q60603" } ], "pmid": "" }, { "name": "phosphatidylinositol bisphosphate binding", "id": "GO:1902936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902936", "evidence": [ { "database": "UniProtKB", "id": "Q60603", "url": "https://www.uniprot.org/uniprotkb/Q60603" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q60603", "url": "https://www.uniprot.org/uniprotkb/Q60603" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q60603", "url": 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"batch.mouse.3" }, { "uniprot_canonical_ac": "Q059U7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q059U7", "url": "https://www.uniprot.org/uniprotkb/Q059U7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 942, "chemical_mass": 104821.0, "gene_names": "Intu;9230116I04Rik;9430087H23Rik;Intu;Kiaa1284;Pdzd6;Pdzk6;mKIAA1284", "protein_name": "Protein inturned", "disease": [ { "disease_id": "DOID:0050592", "name": "asphyxiating thoracic dystrophy", "description": "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.", "url": "https://disease-ontology.org/term/DOID:0050592", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ], "weight": 0.0 }, { "disease_id": "DOID:0080289", "name": "orofaciodigital 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"database": "UniProtKB", "id": "Q059U7", "url": "https://www.uniprot.org/uniprotkb/Q059U7" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q059U7", "url": "https://www.uniprot.org/uniprotkb/Q059U7" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q059U7", "url": "https://www.uniprot.org/uniprotkb/Q059U7" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "Q059U7", "url": "https://www.uniprot.org/uniprotkb/Q059U7" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "Q059U7", 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This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.", "url": "https://disease-ontology.org/term/DOID:0060735", "evidence": [ { "id": "0060735", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060735" } ], "weight": 0.0 }, { "disease_id": "DOID:0111342", "name": "dermatopathia pigmentosa reticularis", "description": "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.", "url": "https://disease-ontology.org/term/DOID:0111342", "evidence": [ { "id": "0111342", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111342" } ], "weight": 0.0 }, { "disease_id": "DOID:0111528", "name": "Naegeli-Franceschetti-Jadassohn syndrome", "description": "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.", "url": "https://disease-ontology.org/term/DOID:0111528", "evidence": [ { "id": "0111528", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111528" } ], "weight": 0.0 }, { "disease_id": "DOID:4644", "name": "epidermolysis bullosa simplex", "description": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.", "url": "https://disease-ontology.org/term/DOID:4644", "evidence": [ { "id": "4644", "database": "AGR", "url": 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{ "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": 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"https://disease-ontology.org/term/DOID:5031", "evidence": [ { "id": "5031", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5031" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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"disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "hepatocyte proliferation", "id": "GO:0072574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072574", "evidence": [ { "database": "UniProtKB", "id": "E9PVX6", "url": "https://www.uniprot.org/uniprotkb/E9PVX6" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "E9PVX6", "url": "https://www.uniprot.org/uniprotkb/E9PVX6" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "E9PVX6", "url": "https://www.uniprot.org/uniprotkb/E9PVX6" } ], "pmid": "" }, { "name": "regulation of mitotic nuclear division", "id": "GO:0007088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007088", "evidence": [ { "database": "UniProtKB", "id": "E9PVX6", "url": "https://www.uniprot.org/uniprotkb/E9PVX6" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "E9PVX6", "url": "https://www.uniprot.org/uniprotkb/E9PVX6" } ], "pmid": "" }, { "name": "cholangiocyte proliferation", "id": "GO:1990705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990705", "evidence": [ { 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"positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "positive regulation of maintenance of mitotic sister chromatid cohesion", "id": "GO:0034184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034184", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "nuclear inclusion body", "id": "GO:0042405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042405", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q91WK1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WK1", "url": "https://www.uniprot.org/uniprotkb/Q91WK1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 207, "chemical_mass": 23275.0, "gene_names": "Spryd4;4633402N23Rik;Spryd4", "protein_name": "SPRY domain-containing protein 4", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91WK1", "url": "https://www.uniprot.org/uniprotkb/Q91WK1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91WK1", "url": "https://www.uniprot.org/uniprotkb/Q91WK1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "P17742-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 164, "chemical_mass": 17971.0, "gene_names": "Ppia;Cphn;CyP-18;CypA;Ppia;SP18", "protein_name": "Peptidyl-prolyl cis-trans isomerase A", "disease": [ { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:12506", "name": "Bell's palsy", "description": "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).", "url": "https://disease-ontology.org/term/DOID:12506", "evidence": [ { "id": "12506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12506" } ], "weight": 0.0 }, { "disease_id": "DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of apoptotic signaling pathway", "id": "GO:2001233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001233", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "activation of protein kinase B activity", "id": "GO:0032148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032148", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "chylomicron assembly", "id": "GO:0034378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034378", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902176", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "lipid droplet organization", "id": "GO:0034389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034389", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "protein peptidyl-prolyl isomerization", "id": "GO:0000413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000413", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "cell adhesion molecule production", "id": "GO:0060352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060352", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "positive regulation of viral genome replication", "id": "GO:0045070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045070", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "regulation of viral genome replication", "id": "GO:0045069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045069", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "negative regulation of viral life cycle", "id": "GO:1903901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903901", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "negative regulation of stress-activated MAPK cascade", "id": "GO:0032873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032873", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "negative regulation of protein K48-linked ubiquitination", "id": "GO:0061944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061944", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "heparan sulfate binding", "id": "GO:1904399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904399", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "cyclosporin A binding", "id": "GO:0016018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016018", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "peptidyl-prolyl cis-trans isomerase activity", "id": "GO:0003755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003755", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P17742-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Asn108", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 108, "start_aa": "Asn", "end_pos": 108, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn108", "evidence": [ { "id": "P17742", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17742#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17742-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 159, "start_aa": "Ser", "end_pos": 159, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser159", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P17742", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17742" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "40885482", "database": "PubMed", "url": 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"rs3388676528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388676528" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ala361", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022052", "evidence": [ { "id": "rs5526565893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526565893" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Leu362", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022050", "evidence": [ { "id": "rs5526489187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526489187" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Val365", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022041", "evidence": [ { "id": "rs3388666043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388666043" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Ala367", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022034", "evidence": [ { "id": "rs3388677029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388677029" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Gln373", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022017", "evidence": [ { "id": "rs3388679260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679260" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Gln409", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021691", "evidence": [ { "id": "rs239717620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239717620" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Gln42", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43024948", "evidence": [ { "id": "rs253394799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253394799" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Ala489", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021451", "evidence": [ { "id": "rs3147290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3147290" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Leu511", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021385", "evidence": [ { "id": "rs220843956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220843956" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ala541", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021295", "evidence": [ { "id": "rs235734911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235734911" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Pro542", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021293", "evidence": [ { "id": "rs217568779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217568779" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Cys61", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43024892", "evidence": [ { "id": "rs3394217329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394217329" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "620", "end_pos": "620", "site_lbl": "Ala620", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": 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"dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394198031" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Pro64", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43024884", "evidence": [ { "id": "rs3393910375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393910375" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Leu703", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020809", "evidence": [ { "id": "rs3394217338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394217338" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Phe704", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020807", "evidence": [ { "id": "rs3394125917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394125917" } ] }, { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020805", "evidence": [ { "id": "rs3394168323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394168323" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020806", "evidence": [ { "id": "rs3394217330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394217330" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Met709", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020792", "evidence": [ { "id": "rs251534891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251534891" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "726", "end_pos": "726", "site_lbl": "Ala726", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020741", "evidence": [ { "id": "rs262406265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262406265" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "749", "end_pos": "749", "site_lbl": "Met749", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020670", "evidence": [ { "id": "rs3507733556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507733556" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Val757", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020648", "evidence": [ { "id": "rs229095379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229095379" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "804", "end_pos": "804", "site_lbl": "His804", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020506", "evidence": [ { "id": "rs27830214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27830214" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Lys817", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020467", "evidence": [ { "id": "rs27830215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27830215" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Met849", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020372", "evidence": [ { "id": "rs27830216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27830216" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "881", "end_pos": "881", "site_lbl": "Ala881", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020276", "evidence": [ { "id": "rs5526565963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526565963" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "903", "end_pos": "903", "site_lbl": "Thr903", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43019797", "evidence": [ { "id": "rs3388679655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679655" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "909", "end_pos": "909", "site_lbl": "His909", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43019777", "evidence": [ { "id": "rs3388674902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388674902" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "934", "end_pos": "934", "site_lbl": "Trp934", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43019703", "evidence": [ { "id": "rs257142766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257142766" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "952", "end_pos": "952", "site_lbl": "Ala952", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43019650", "evidence": [ { "id": "rs3388671543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388671543" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "958", "end_pos": "958", "site_lbl": "Leu958", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: 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"https://disease-ontology.org/term/DOID:0070045", "evidence": [ { "id": "0070045", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070045" } ], "weight": 0.0 }, { "disease_id": "DOID:0070480", "name": "schwannomatosis 1", "description": "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.", "url": "https://disease-ontology.org/term/DOID:0070480", "evidence": [ { "id": "0070480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070480" } ], "weight": 0.0 }, { "disease_id": "DOID:0070618", "name": "rhabdoid tumor predisposition syndrome 1", "description": "A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11.", "url": "https://disease-ontology.org/term/DOID:0070618", "evidence": [ { "id": "0070618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070618" } ], "weight": 0.0 }, { "disease_id": "DOID:0080799", "name": "sinonasal undifferentiated carcinoma", "description": "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells.", "url": "https://disease-ontology.org/term/DOID:0080799", "evidence": [ { "id": "0080799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080799" } ], "weight": 0.0 }, { "disease_id": "DOID:0111252", "name": "vestibular schwannomatosis", "description": "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.", "url": "https://disease-ontology.org/term/DOID:0111252", "evidence": [ { "id": "0111252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111252" } ], "weight": 0.0 }, { "disease_id": "DOID:2129", "name": "atypical teratoid rhabdoid tumor", "description": "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.", "url": "https://disease-ontology.org/term/DOID:2129", "evidence": [ { "id": "2129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2129" } ], "weight": 0.0 }, { "disease_id": "DOID:3204", "name": "schwannomatosis", "description": "A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors.", "url": "https://disease-ontology.org/term/DOID:3204", "evidence": [ { "id": "3204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3204" } ], "weight": 0.0 }, { "disease_id": "DOID:3565", "name": "meningioma", "description": "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.", "url": "https://disease-ontology.org/term/DOID:3565", "evidence": [ { "id": "3565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3565" } ], "weight": 0.0 }, { "disease_id": "DOID:3672", "name": "rhabdoid cancer", "description": "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.", "url": "https://disease-ontology.org/term/DOID:3672", "evidence": [ { "id": "3672", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3672" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:5485", "name": "synovial sarcoma", "description": "A synovium cancer which develops in the synovial membrane of the joints.", "url": "https://disease-ontology.org/term/DOID:5485", "evidence": [ { "id": "5485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5485" } ], "weight": 0.0 }, { "disease_id": "DOID:6193", "name": "epithelioid sarcoma", "description": "A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue.", "url": "https://disease-ontology.org/term/DOID:6193", "evidence": [ { "id": "6193", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6193" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "positive regulation of glucose mediated signaling pathway", "id": "GO:1902661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902661", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "single stranded viral RNA replication via double stranded DNA intermediate", "id": "GO:0039692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039692", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "nucleosome disassembly", "id": "GO:0006337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006337", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "host-mediated activation of viral transcription", "id": "GO:0043923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043923", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "positive regulation of transcription of nucleolar large rRNA by RNA polymerase I", "id": "GO:1901838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901838", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation", "id": "GO:0045582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045582", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "blastocyst development", "id": "GO:0001824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001824", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "regulation of G0 to G1 transition", "id": "GO:0070316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070316", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "Tat protein binding", "id": "GO:0030957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030957", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "RNA polymerase I core promoter sequence-specific DNA binding", "id": "GO:0001164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001164", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "SWI/SNF complex", "id": "GO:0016514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016514", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "npBAF complex", "id": "GO:0071564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071564", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "nBAF complex", "id": "GO:0071565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071565", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "nuclear chromosome", "id": "GO:0000228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000228", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "XY body", "id": "GO:0001741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001741", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" }, { "name": "brahma complex", "id": "GO:0035060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035060", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0H3-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0H3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0H3" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "O35253-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35253", "url": "https://www.uniprot.org/uniprotkb/O35253" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 426, "chemical_mass": 46442.0, "gene_names": "Smad7;Madh7;Madh8;Smad7", "protein_name": "SMAD family member 7", "disease": [ { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": 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} ], "pmid": "" }, { "name": "negative regulation of T cell cytokine production", "id": "GO:0002725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002725", "evidence": [ { "database": "UniProtKB", "id": "O35253", "url": "https://www.uniprot.org/uniprotkb/O35253" } ], "pmid": "" }, { "name": "negative regulation of T-helper 17 cell differentiation", "id": "GO:2000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000320", "evidence": [ { "database": "UniProtKB", "id": "O35253", "url": "https://www.uniprot.org/uniprotkb/O35253" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O35253", "url": "https://www.uniprot.org/uniprotkb/O35253" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "protein 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focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of wound healing", "id": "GO:0061045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061045", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "nodal signaling pathway", "id": "GO:0038092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038092", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of osteoblast proliferation", "id": "GO:0033689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033689", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "cellular response to platelet-derived growth factor stimulus", "id": "GO:0036120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036120", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of cytosolic calcium ion concentration", "id": "GO:0051481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051481", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "immune system development", "id": "GO:0002520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002520", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "transdifferentiation", "id": "GO:0060290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060290", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix assembly", "id": "GO:1901203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901203", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy in response to stress", "id": "GO:1903243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903243", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "pericardium development", "id": "GO:0060039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060039", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "trophoblast cell migration", "id": "GO:0061450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061450", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "response to angiotensin", "id": "GO:1990776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990776", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta3 production", "id": "GO:0032916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032916", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "lens fiber cell differentiation", "id": "GO:0070306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070306", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "regulation of transforming growth factor beta2 production", "id": "GO:0032909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032909", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of alkaline phosphatase activity", "id": "GO:0010694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010694", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" } ], "molecular_function": [ { "name": "co-SMAD binding", "id": "GO:0070410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070410", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "nuclear mineralocorticoid receptor binding", "id": "GO:0031962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031962", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "nuclear glucocorticoid receptor binding", "id": "GO:0035259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035259", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor binding", "id": "GO:0005160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005160", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "DEAD/H-box RNA helicase binding", "id": "GO:0017151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017151", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "ubiquitin binding", 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8736", "name": "smallpox", "description": "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0034124", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA 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signaling pathway", "id": "GO:0060333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060333", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "cellular response to peptide hormone stimulus", "id": "GO:0071375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071375", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "response to growth hormone", "id": "GO:0060416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060416", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 cell differentiation", "id": "GO:0045627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045627", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "negative regulation of T-helper 2 cell differentiation", "id": "GO:0045629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045629", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "negative regulation of regulatory T cell differentiation", "id": "GO:0045590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045590", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "regulation of adaptive immune response", "id": "GO:0002819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002819", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "toll-like receptor 3 signaling pathway", "id": "GO:0034138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034138", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell differentiation", "id": "GO:0032825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032825", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "negative regulation of protein modification process", "id": "GO:0031400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031400", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "RNA 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"phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VD37", "url": "https://www.uniprot.org/uniprotkb/Q8VD37" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VD37", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VD37" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q80W00-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80W00", "url": "https://www.uniprot.org/uniprotkb/Q80W00" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 888, "chemical_mass": 94372.0, "gene_names": "Ppp1r10;2610025H06Rik;Cat53;D17Ertd808e;Fb19;Pnuts;Ppp1r10", "protein_name": "Serine/threonine-protein phosphatase 1 regulatory subunit 10", "disease": [], "molecular_function": [ { "name": 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"evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "positive regulation of clathrin coat assembly", "id": "GO:1905445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905445", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "positive regulation of platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:2000588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000588", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": 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endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "digestive system development", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042853", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "glyoxylate catabolic process", "id": "GO:0009436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009436", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "glycine biosynthetic process, by transamination of glyoxylate", "id": "GO:0019265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019265", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "L-serine metabolic process", "id": "GO:0006563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006563", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "L-cysteine catabolic process", "id": "GO:0019448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019448", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" } ], "molecular_function": [ { "name": "L-serine-pyruvate transaminase activity", "id": "GO:0004760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004760", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "amino acid binding", "id": "GO:0016597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016597", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "alanine-glyoxylate transaminase activity", "id": "GO:0008453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008453", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "transaminase activity", "id": "GO:0008483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008483", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "O35423", "url": "https://www.uniprot.org/uniprotkb/O35423" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "O35718-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 225, "chemical_mass": 24776.0, "gene_names": "Socs3;Cis3;Cish3;EF-10;Ef10;SSI-3;Socs3;Ssi3", "protein_name": "Suppressor of cytokine signaling 3", "disease": [ { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height 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"id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "branching involved in labyrinthine layer morphogenesis", "id": "GO:0060670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060670", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "placenta blood vessel development", "id": "GO:0060674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060674", "evidence": 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"weight": 0.0 } ], "biological_process": [ { "name": "heart valve development", "id": "GO:0003170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003170", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "regulation of natural killer cell differentiation", "id": "GO:0032823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032823", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "regulation of extrathymic T cell differentiation", "id": "GO:0033082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033082", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "regulation of NK T cell differentiation", "id": "GO:0051136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051136", "evidence": [ { "database": "UniProtKB", "id": "Q60636", 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"Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "trophoblast giant cell differentiation", "id": "GO:0060707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060707", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "cardiac septum development", "id": "GO:0003279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003279", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "intestinal epithelial cell development", "id": "GO:0060576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060576", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "negative regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031665", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "retinal bipolar neuron differentiation", "id": "GO:0060040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060040", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": 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"13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. 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"description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "weight": 0.0 }, { "disease_id": "DOID:2972", "name": "renal artery obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:2972", "evidence": [ { "id": "2972", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2972" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest 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that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.", "url": "https://disease-ontology.org/term/DOID:5113", "evidence": [ { "id": "5113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5113" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:649", "name": "prion disease", "description": "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.", "url": 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retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { 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], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "positive regulation of catalytic activity", "id": "GO:0043085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043085", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "relaxation of vascular associated smooth muscle", "id": "GO:0060087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060087", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "retina homeostasis", "id": "GO:0001895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001895", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "hydrogen peroxide biosynthetic process", "id": "GO:0050665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050665", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "removal of superoxide radicals", "id": "GO:0019430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019430", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "peripheral nervous system myelin maintenance", "id": "GO:0032287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032287", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "cellular response to cadmium ion", "id": "GO:0071276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071276", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": 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"name": "neurotransmitter loading into synaptic vesicle", "id": "GO:0098700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098700", "evidence": [ { "database": "UniProtKB", "id": "O35304", "url": "https://www.uniprot.org/uniprotkb/O35304" } ], "pmid": "" }, { "name": "positive regulation of neuromuscular junction development", "id": "GO:1904398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904398", "evidence": [ { "database": "UniProtKB", "id": "O35304", "url": "https://www.uniprot.org/uniprotkb/O35304" } ], "pmid": "" }, { "name": "acetylcholine uptake", "id": "GO:0051630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051630", "evidence": [ { "database": "UniProtKB", "id": "O35304", "url": "https://www.uniprot.org/uniprotkb/O35304" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35304", "url": "https://www.uniprot.org/uniprotkb/O35304" 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Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "positive regulation of viral life cycle", "id": "GO:1903902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903902", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "dendritic cell migration", "id": "GO:0036336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036336", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "B cell adhesion", "id": "GO:0097323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097323", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "immature T cell proliferation", "id": "GO:0033079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033079", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "cell adhesion receptor activity", "id": "GO:0004895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004895", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91ZW9-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Asn70", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 70, "start_aa": "Asn", "end_pos": 70, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn70", "evidence": [ { "id": 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"record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "P55284-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P55284", "url": "https://www.uniprot.org/uniprotkb/P55284" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 784, "chemical_mass": 87903.0, "gene_names": "Cdh5;7B4;Cd144;Cdh5;VE-Cad;VECD;VEcad;Vec", "protein_name": "Cadherin-5", "disease": [ { "disease_id": "DOID:0050535", "name": "exudative vitreoretinopathy", "description": "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.", "url": "https://disease-ontology.org/term/DOID:0050535", "evidence": [ { "id": "0050535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050535" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3963", "name": "thyroid gland carcinoma", "description": "A thyroid gland cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3963", "evidence": [ { "id": "3963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3963" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": 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"Ser185", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140644734", "evidence": [ { "id": "rs3388964149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964149" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ala204", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140644791", "evidence": [ { "id": "rs3388916222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916222" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Asp276", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140646885", "evidence": [ { "id": "rs257963376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257963376" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Asp285", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140646911", "evidence": [ { "id": "rs3388961875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388961875" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Ile305", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647082", "evidence": [ { "id": "rs249311926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249311926" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Pro310", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647098", "evidence": [ { "id": "rs220936492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220936492" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ser394", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647515", "evidence": [ { "id": "rs3388962189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388962189" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Glu412", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647648", "evidence": [ { "id": "rs3388947525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388947525" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Glu413", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647650", "evidence": [ { "id": "rs3388943162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388943162" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Glu421", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647675", "evidence": [ { "id": "rs3388948479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388948479" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Asp443", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647814", "evidence": [ { "id": "rs245450718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245450718" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Pro462", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647869", "evidence": [ { "id": "rs3388962193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388962193" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Thr468", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647888", "evidence": [ { "id": "rs3388916208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916208" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Asp483", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647934", "evidence": [ { "id": "rs217426769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217426769" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Arg498", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647978", "evidence": [ { "id": "rs234497167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234497167" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Leu502", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140647989", "evidence": [ { "id": "rs3388958446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958446" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Pro509", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648011", "evidence": [ { "id": "rs3388964117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964117" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Thr512", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648019", "evidence": [ { "id": "rs3388956968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388956968" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Arg534", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648086", "evidence": [ { "id": "rs3388943096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388943096" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Asp538", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648097", "evidence": [ { "id": "rs218780570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218780570" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Glu53", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140643756", "evidence": [ { "id": "rs250493197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250493197" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Pro563", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648172", "evidence": [ { "id": "rs3388937424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388937424" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Lys577", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648214", "evidence": [ { "id": "rs3388960881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388960881" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Glu580", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648224", "evidence": [ { "id": "rs252809501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252809501" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Gly593", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648263", "evidence": [ { "id": "rs262211112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262211112" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Ser61", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140643779", "evidence": [ { "id": "rs3398477202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398477202" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Phe622", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648350", "evidence": [ { "id": "rs3398477188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398477188" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Leu623", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648352", "evidence": [ { "id": "rs240184697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240184697" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Arg630", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648374", "evidence": [ { "id": "rs260988908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260988908" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Glu639", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648401", "evidence": [ { "id": "rs222468218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222468218" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Gly640", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648404", "evidence": [ { "id": "rs237794327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237794327" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Val64", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140643788", "evidence": [ { "id": "rs3398203495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398203495" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Arg65", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140643792", "evidence": [ { "id": "rs246347831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246347831" } ] }, { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140651938", "evidence": [ { "id": "rs3388960870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388960870" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Ser69", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140643804", "evidence": [ { "id": "rs3398568226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398568226" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Pro789", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140650499", "evidence": [ { "id": "rs3388964148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964148" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "796", "end_pos": "796", "site_lbl": "Ser796", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140650521", "evidence": [ { "id": "rs3388964138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964138" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "814", "end_pos": "814", "site_lbl": "Arg814", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140650574", "evidence": [ { "id": "rs3388916154", "database": "dbSNP", "url": 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In m8 mutant; abolished binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-102, A-112, A-161, A-375, A-385, A-427 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q7JJ13", "url": "https://www.uniprot.org/uniprotkb/Q7JJ13" }, { "database": "PubMed", "id": "14731392", "url": "https://glygen.org/publication/PubMed/14731392" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolished interaction with acetylated STAT3.", "evidence": [ { "database": "UniProtKB", "id": "Q7JJ13", "url": "https://www.uniprot.org/uniprotkb/Q7JJ13" }, { "database": "PubMed", "id": "28262505", "url": "https://glygen.org/publication/PubMed/28262505" } ] } ] }, { "uniprot_canonical_ac": "Q7JJ13-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Ile161", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "In BD1-m4 mutant; reduced binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-102, A-112 and A-154. In m8 mutant; abolished binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-102, A-112, A-161, A-375, A-385, A-427 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q7JJ13", "url": "https://www.uniprot.org/uniprotkb/Q7JJ13" }, { "database": "PubMed", "id": "14731392", "url": "https://glygen.org/publication/PubMed/14731392" } ] } ] }, { "uniprot_canonical_ac": "Q7JJ13-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Val375", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "In BD2-m4 mutant; reduced binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-385, A-427 and A-434. In m8 mutant; abolished binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-102, A-112, A-154, A-161, A-385, A-427 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q7JJ13", "url": "https://www.uniprot.org/uniprotkb/Q7JJ13" }, { "database": "PubMed", "id": "14731392", "url": "https://glygen.org/publication/PubMed/14731392" } ] } ] }, { "uniprot_canonical_ac": "Q7JJ13-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Tyr385", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "In BD2-m4 mutant; reduced binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-375, A-427 and A-434. In m8 mutant; abolished binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-102, A-112, A-154, A-161, A-375, A-427 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q7JJ13", "url": "https://www.uniprot.org/uniprotkb/Q7JJ13" }, { "database": "PubMed", "id": "14731392", "url": "https://glygen.org/publication/PubMed/14731392" } ] } ] }, { "uniprot_canonical_ac": "Q7JJ13-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Tyr427", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "In BD2-m4 mutant; reduced binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-375, A-385 and A-434. In m8 mutant; abolished binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-102, A-112, A-154, A-161, A-375, A-385 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q7JJ13", "url": "https://www.uniprot.org/uniprotkb/Q7JJ13" }, { "database": "PubMed", "id": "14731392", "url": "https://glygen.org/publication/PubMed/14731392" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolished interaction with acetylated STAT3.", "evidence": [ { "database": "UniProtKB", "id": "Q7JJ13", "url": "https://www.uniprot.org/uniprotkb/Q7JJ13" }, { "database": "PubMed", "id": "28262505", "url": "https://glygen.org/publication/PubMed/28262505" } ] } ] }, { "uniprot_canonical_ac": "Q7JJ13-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Val434", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "In BD2-m4 mutant; reduced binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-375, A-385 and A-427. In m8 mutant; abolished binding to histone H4 acetylated at 'Lys-12' (H4K12ac); when associated with A-102, A-112, A-154, A-161, A-375, A-385, and A-427434.", "evidence": [ { "database": "UniProtKB", "id": "Q7JJ13", "url": "https://www.uniprot.org/uniprotkb/Q7JJ13" }, { "database": "PubMed", "id": "14731392", "url": "https://glygen.org/publication/PubMed/14731392" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q7TSA3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 306, "chemical_mass": 34337.0, "gene_names": "Btla;A630002H24;Btla", "protein_name": "B- and T-lymphocyte attenuator", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" }, { "name": "plasma membrane protein complex", "id": "GO:0098797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098797", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" }, { "name": "negative regulation of B cell proliferation", "id": "GO:0030889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030889", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" }, { "name": "immune response-regulating cell surface receptor signaling pathway", "id": "GO:0002768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002768", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" }, { "name": "negative regulation of alpha-beta T cell proliferation", "id": "GO:0046642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046642", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" }, { "name": "regulation of T cell tolerance induction to tumor cell", "id": "GO:0002846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002846", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Asn101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "Q7TSA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Asn119", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 119, "start_aa": "Asn", "end_pos": 119, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn119", "evidence": [ { "id": "Q7TSA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Asn148", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 148, "start_aa": "Asn", "end_pos": 148, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn148", "evidence": [ { "id": "Q7TSA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Asn165", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "Q7TSA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Asn74", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "Q7TSA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->HVT).", "chr_id": "16", "chr_pos": "45059517", "evidence": [ { "id": "rs4180617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4180617" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Asn81", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 81, "start_aa": "Asn", "end_pos": 81, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn81", "evidence": [ { "id": "Q7TSA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Thr45", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TIT->NIT).", "chr_id": "16", "chr_pos": "45059431", "evidence": [ { "id": "rs49638012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49638012" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "136", "end_pos": "136", "site_lbl": "His136", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Loss of interaction with TNFRSF14.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" }, { "database": "PubMed", "id": "18178834", "url": "https://glygen.org/publication/PubMed/18178834" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Tyr245", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No change of phosphorylation implicated in interaction with PTPN6 and PTPN11. Severe reduction of phosphorylation; when associated with F-274 and/or F-299.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" }, { "database": "PubMed", "id": "12796776", "url": "https://glygen.org/publication/PubMed/12796776" }, { "database": "PubMed", "id": "14652006", "url": "https://glygen.org/publication/PubMed/14652006" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Tyr274", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No change of phosphorylation implicated in interaction with PTPN6 and PTPN11. Severe reduction of phosphorylation; when associated with F-245 and/or F-299.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" }, { "database": "PubMed", "id": "12796776", "url": "https://glygen.org/publication/PubMed/12796776" }, { "database": "PubMed", "id": "14652006", "url": "https://glygen.org/publication/PubMed/14652006" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Tyr299", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No change of phosphorylation implicated in interaction with PTPN6 and PTPN11. Severe reduction of phosphorylation; when associated with F-245 and/or F-274.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" }, { "database": "PubMed", "id": "12796776", "url": "https://glygen.org/publication/PubMed/12796776" }, { "database": "PubMed", "id": "14652006", "url": "https://glygen.org/publication/PubMed/14652006" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Leu44", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Loss of interaction with TNFRSF14.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" }, { "database": "PubMed", "id": "18178834", "url": "https://glygen.org/publication/PubMed/18178834" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Arg48", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "D", "comment": "Loss of interaction with TNFRSF14.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" }, { "database": "PubMed", "id": "18178834", "url": "https://glygen.org/publication/PubMed/18178834" } ] } ] }, { "uniprot_canonical_ac": "Q7TSA3-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Pro65", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Loss of interaction with TNFRSF14.", "evidence": [ { "database": "UniProtKB", "id": "Q7TSA3", "url": "https://www.uniprot.org/uniprotkb/Q7TSA3" }, { "database": "PubMed", "id": "18178834", "url": "https://glygen.org/publication/PubMed/18178834" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q8BG79-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BG79", "url": "https://www.uniprot.org/uniprotkb/Q8BG79" } ], "common_name": "Mouse", 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"glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 582, "start_aa": "Asn", "end_pos": 582, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn582", "evidence": [ { "id": "Q8CFG9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CFG9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG9-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Ser205", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CFG9", "url": "https://www.uniprot.org/uniprotkb/Q8CFG9" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q8CFR0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CFR0", "url": "https://www.uniprot.org/uniprotkb/Q8CFR0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 287, "chemical_mass": 29292.0, "gene_names": "C1ql2;Adii;C1ql2;C1qtnf10;CTRP10;Ctrp10", "protein_name": "Complement C1q-like protein 2", "disease": [], "biological_process": [ { "name": "postsynaptic density assembly", "id": "GO:0097107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097107", "evidence": [ { "database": "UniProtKB", "id": "Q8CFR0", "url": "https://www.uniprot.org/uniprotkb/Q8CFR0" } ], "pmid": "" }, { "name": "maintenance of synapse structure", "id": "GO:0099558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099558", "evidence": [ { "database": "UniProtKB", "id": "Q8CFR0", "url": "https://www.uniprot.org/uniprotkb/Q8CFR0" } ], "pmid": "" }, { "name": "regulation of synapse maturation", "id": "GO:0090128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090128", "evidence": [ { 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Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "positive regulation of viral life cycle", "id": "GO:1903902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903902", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "dendritic cell migration", "id": "GO:0036336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036336", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "B cell adhesion", "id": "GO:0097323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097323", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "immature T cell proliferation", "id": "GO:0033079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033079", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" } ], "molecular_function": [ { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "cell adhesion receptor activity", "id": "GO:0004895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004895", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91ZW7-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Met102", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3902799", "evidence": [ { "id": "rs215926626", "database": 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}, { "uniprot_canonical_ac": "Q91ZW7-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Met136", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3901245", "evidence": [ { "id": "rs3388969157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388969157" } ] }, { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3901247", "evidence": [ { "id": "rs3388949812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388949812" } ] } ] }, { "uniprot_canonical_ac": "Q91ZW7-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Trp147", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3901214", "evidence": [ { "id": "rs3388964437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964437" } ] } ] }, { "uniprot_canonical_ac": "Q91ZW7-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Ser153", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3901195", "evidence": [ { "id": "rs3546311445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546311445" } ] } ] }, { "uniprot_canonical_ac": "Q91ZW7-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Glu160", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 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"Phe90", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "8", "chr_pos": "3902837", "evidence": [ { "id": "rs3388945025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388945025" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q99N23-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99N23", "url": "https://www.uniprot.org/uniprotkb/Q99N23" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 324, "chemical_mass": 35482.0, "gene_names": "Ca15;Ca15;Cals2;Car15", "protein_name": "Carbonic anhydrase 15", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { 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], "pmid": "" }, { "name": "deoxyribonucleoside catabolic process", "id": "GO:0046121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046121", "evidence": [ { "database": "UniProtKB", "id": "Q91YP3", "url": "https://www.uniprot.org/uniprotkb/Q91YP3" } ], "pmid": "" }, { "name": "deoxyribose phosphate catabolic process", "id": "GO:0046386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046386", "evidence": [ { "database": "UniProtKB", "id": "Q91YP3", "url": "https://www.uniprot.org/uniprotkb/Q91YP3" } ], "pmid": "" }, { "name": "deoxyribonucleotide catabolic process", "id": "GO:0009264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009264", "evidence": [ { "database": "UniProtKB", "id": "Q91YP3", "url": "https://www.uniprot.org/uniprotkb/Q91YP3" } ], "pmid": "" } ], "molecular_function": [ { "name": "deoxyribose-phosphate aldolase activity", "id": "GO:0004139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004139", "evidence": [ { "database": "UniProtKB", "id": "Q91YP3", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q8K4N3", "url": "https://www.uniprot.org/uniprotkb/Q8K4N3" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q8K4N3", "url": "https://www.uniprot.org/uniprotkb/Q8K4N3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q70KL3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 74, "chemical_mass": 8552.0, "gene_names": "Defb39;BD-39;Defb39", "protein_name": "Beta-defensin 39", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "pmid": "" }, { "name": "innate immune response in mucosa", "id": "GO:0002227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002227", "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "pmid": "" } ], "molecular_function": [ { "name": "CCR6 chemokine receptor binding", "id": "GO:0031731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031731", "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q9DCV3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCV3", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1905710", "evidence": [ { "database": "UniProtKB", "id": "P50715", "url": "https://www.uniprot.org/uniprotkb/P50715" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P50715", "url": "https://www.uniprot.org/uniprotkb/P50715" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P50715", "url": "https://www.uniprot.org/uniprotkb/P50715" } ], "pmid": "" }, { "name": "pore-forming activity", "id": "GO:0140911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140911", "evidence": [ { "database": "UniProtKB", "id": "P50715", "url": "https://www.uniprot.org/uniprotkb/P50715" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "P51656-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 344, "chemical_mass": 36785.0, "gene_names": "Hsd17b1;17HSDB1;17beta-HSD;E2DH;Edh17b1;Hsd17b1;Hsd17ba", "protein_name": "17-beta-hydroxysteroid dehydrogenase type 1", "disease": [ { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "17-beta-hydroxysteroid dehydrogenase (NADP+) activity", "id": "GO:0072582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072582", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "estradiol 17-beta-dehydrogenase [NAD(P)+] activity", "id": "GO:0004303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004303", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "small 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"https://www.ebi.ac.uk/QuickGO/term/GO:0061370", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "cellular response to metal ion", "id": "GO:0071248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071248", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P51656-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "P56386-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 69, "chemical_mass": 7749.0, "gene_names": "Defb1;BD-1;Defb1", "protein_name": "Beta-defensin 1", "disease": [ { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. 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"description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": 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"GO:1901534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901534", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance via telomere lengthening", "id": "GO:1904358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904358", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of mRNA 3'-end processing", "id": "GO:0031442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031442", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase III", "id": "GO:0006359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006359", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "telomerase RNA stabilization", "id": "GO:0090669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090669", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], 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"https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "G-quadruplex RNA binding", "id": "GO:0002151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002151", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "ATP-dependent activity, acting on DNA", "id": "GO:0008094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008094", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "G-quadruplex DNA binding", "id": "GO:0051880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051880", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "pre-miRNA binding", "id": "GO:0070883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070883", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "mRNA 5'-UTR binding", "id": "GO:0048027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048027", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "telomerase RNA binding", "id": "GO:0070034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070034", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "catalytic activity, acting on a nucleic acid", "id": "GO:0140640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140640", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "G-quadruplex unwinding activity", "id": "GO:0160225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160225", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHK9-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 33, "start_aa": "Ser", "end_pos": 33, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser33", "evidence": [ { "id": "34418053", "database": "PubMed", "url": 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}, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], 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"name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "vein smooth muscle contraction", "id": "GO:0014826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014826", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "heparin proteoglycan metabolic 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "response to acetylcholine", "id": "GO:1905144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905144", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "histamine secretion", "id": "GO:0001821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001821", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neural crest cell development", "id": "GO:0014032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014032", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neural crest cell differentiation", "id": "GO:0014033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014033", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051281", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "cellular response to toxic substance", "id": "GO:0097237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097237", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "artery smooth muscle contraction", "id": "GO:0014824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014824", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "norepinephrine metabolic process", "id": "GO:0042415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042415", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of cation channel activity", "id": "GO:2001259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001259", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "glomerulus development", "id": "GO:0032835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032835", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "vascular associated smooth muscle cell development", "id": "GO:0097084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097084", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "sodium ion homeostasis", "id": "GO:0055078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055078", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "fibroblast proliferation", "id": "GO:0048144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048144", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "smooth muscle cell proliferation", "id": "GO:0048659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048659", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "glomerular filtration", "id": "GO:0003094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003094", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "glomerular endothelium development", "id": "GO:0072011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072011", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "axonogenesis involved in innervation", "id": "GO:0060385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060385", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neural crest cell fate commitment", "id": "GO:0014034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014034", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of odontogenesis", "id": "GO:0042482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042482", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "pharyngeal arch artery morphogenesis", "id": "GO:0061626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061626", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of kidney development", "id": "GO:0090184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090184", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "left ventricular cardiac muscle tissue morphogenesis", "id": "GO:0003220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003220", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "heparin proteoglycan metabolic process", "id": "GO:0030202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030202", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "podocyte 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The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0060939", "evidence": [ { "id": "0060939", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060939" } ], "weight": 0.0 } ], "biological_process": [ { "name": "organelle fusion", "id": "GO:0048284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048284", "evidence": [ { "database": "UniProtKB", "id": "Q91W86", "url": "https://www.uniprot.org/uniprotkb/Q91W86" } ], "pmid": "" }, { "name": "regulation of organelle assembly", "id": "GO:1902115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902115", "evidence": [ { "database": "UniProtKB", "id": "Q91W86", "url": "https://www.uniprot.org/uniprotkb/Q91W86" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": 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"database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", 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"UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": 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